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Addition of MPS-II to the Recommended Uniform Screening Panel in the United States
Download from doi.orgPersistent dyslipidemia in treatment of lysosomal acid lipase deficiency
Download from link.springer.comLow bone mineral density is a common finding in patients with homocystinuria
Download from www.ncbi.nlm.nih.govA Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
UploadLong-Term Safety and Efficacy of Sapropterin: The PKUDOS registry experience
Download from www.researchgate.netMultiple Phenotypes in Phosphoglucomutase 1 Deficiency
Download from hdl.handle.netLiver Pathology in Infantile Mitochondrial DNA Depletion Syndrome
Download from journals.sagepub.comSevere Metabolic Acidosis in a Newborn With an Abnormal Newborn Screen
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